ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys)

gnomAD frequency: 0.00022  dbSNP: rs147882975
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232108 SCV001404654 likely benign Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2024-11-21 criteria provided, single submitter clinical testing
New York Genome Center RCV002468200 SCV002764452 uncertain significance McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2021-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002468200 SCV002784936 uncertain significance McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2024-04-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004695239 SCV005194876 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004538487 SCV004719376 uncertain significance MKKS-related disorder 2024-09-24 no assertion criteria provided clinical testing The MKKS c.1098T>A variant is predicted to result in the amino acid substitution p.Asn366Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.076% of alleles in individuals of African descent in gnomAD, which may be too common to be an unreported primary cause of disease. Although we suspect this variant may possibly be benign, at this time its clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.

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